Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.

doi:10.1371/journal.pgen.1002687

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Article

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.

PLoS genetics - 1 Jan 2012

Tang Clara Sze-Man, Cheng Guo, So Man-Ting, Yip Benjamin Hon-Kei, Miao Xiao-Ping, Wong Emily Hoi-Man, Ngan Elly Sau-Wai, Lui Vincent Chi-Hang, Song You-Qiang, Chan Danny, Cheung Kenneth, Yuan Zhen-Wei, Lei Liu, Chung Patrick Ho-Yu, Liu Xue-Lai, Wong Kenneth Kak-Yuen, Marshall Christian R, Scherer Stephen W, Scherer Steve, Cherny Stacey S, Sham Pak-Chung, Tam Paul Kwong-Hang, Garcia-Barceló Maria-Mercè

Abstract excerpt

Hirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine. To assess the contribution of copy number variants (CNVs) to HSCR, we analysed the data generated from our previous genome-wide association study on HSCR patients, whereby we identified NRG1 as a new HSCR susceptibility locus. Analysis of 129 Chinese patients and 331 ethnically matched controls showed that...

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PMID: 22589734
DOI: 10.1371/journal.pgen.1002687
PMCID: PMC3349728

Genes

NRG3
NRG1

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